A unique case of de novo 5q33.3-q34 triplication with uniparental isodisomy of 5q34-qter.
about
Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints.Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements.Absence of heterozygosity due to template switching during replicative rearrangements.A case with concurrent duplication, triplication, and uniparental isodisomy at 1q42.12-qter supporting microhomology-mediated break-induced replication model for replicative rearrangements.Partial tetrasomy 11q resulting from an intrachromosomal triplication of a 22 Mb region of chromosome 11.De novo 11q13.4q14.3 tetrasomy with uniparental isodisomy for 11q14.3qter.
P2860
A unique case of de novo 5q33.3-q34 triplication with uniparental isodisomy of 5q34-qter.
description
2013 nî lūn-bûn
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2013年の論文
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2013年学术文章
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2013年学术文章
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2013年学术文章
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name
A unique case of de novo 5q33.3-q34 triplication with uniparental isodisomy of 5q34-qter.
@en
A unique case of de novo 5q33.3-q34 triplication with uniparental isodisomy of 5q34-qter.
@nl
type
label
A unique case of de novo 5q33.3-q34 triplication with uniparental isodisomy of 5q34-qter.
@en
A unique case of de novo 5q33.3-q34 triplication with uniparental isodisomy of 5q34-qter.
@nl
prefLabel
A unique case of de novo 5q33.3-q34 triplication with uniparental isodisomy of 5q34-qter.
@en
A unique case of de novo 5q33.3-q34 triplication with uniparental isodisomy of 5q34-qter.
@nl
P2093
P2860
P356
P1476
A unique case of de novo 5q33.3-q34 triplication with uniparental isodisomy of 5q34-qter.
@en
P2093
Atsushi Fujita
Hiroshi Suzumura
Mitsuko Nakashima
Naoki Harada
Naomichi Matsumoto
Noriko Miyake
P2860
P304
P356
10.1002/AJMG.A.36026
P407
P577
2013-07-04T00:00:00Z